HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: NADH cytochrome B5 reductase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.010 GeneticVariation disease BEFREE Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. 22935660 2013